Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., Topaloglu, H., Tulinius, M., Montes, J., Glanzman, A. M., Bishop, K., Zhong, Z. J., Gheuens, S., Bennett, C. F., Schneider, E., Farwell, W., De Vivo, D. C., Endear Study Group :
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
N Engl J Med, 2017 ; 377 (18) : 1723-1732
Publications (1184)
Roman, W., Martins, J. P., Carvalho, F. A., Voituriez, R., Abella, J. V. G., Santos, N. C., Cadot, B., Way, M., Gomes, E. R. :
Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle Nat Cell Biol, 2017 ; (SP) :
Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle Nat Cell Biol, 2017 ; (SP) :
Sicot, G., Servais, L., Dinca, D. M., Leroy, A., Prigogine, C., Medja, F., Braz, S. O., Huguet-Lachon, A., Chhuon, C., Nicole, A., Gueriba, N., Oliveira, R., Dan, B., Furling, D., Swanson, M. S., Guerrera, I. C., Cheron, G., Gourdon, G., Gomes-Pereira, M. :
Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy Cell Rep, 2017 ; 19 (13) : 2718-2729
Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy Cell Rep, 2017 ; 19 (13) : 2718-2729
Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S. A., Cordova, G., Ferry, A., Strings, V., Espinoza, M. P., Mamchaoui, K., Blumen, S. C., St Guily, J. L., Mouly, V., Graham, M., Butler-Browne, G., Suhy, D. A., Trollet, C., Dickson, G. :
PABPN1 gene therapy for oculopharyngeal muscular dystrophy Nat Commun, 2017 ; 8 : 14848
PABPN1 gene therapy for oculopharyngeal muscular dystrophy Nat Commun, 2017 ; 8 : 14848
van Agtmaal, E. L., Andre, L. M., Willemse, M., Cumming, S. A., van Kessel, I. D., van den Broek, W. J., Gourdon, G., Furling, D., Mouly, V., Monckton, D. G., Wansink, D. G., Wieringa, B. :
CRISPR/Cas9-Induced (CTGCAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing Mol Ther, 2017 ; 25 (1) : 24-43
CRISPR/Cas9-Induced (CTGCAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing Mol Ther, 2017 ; 25 (1) : 24-43
Truffault, F., de Montpreville, V., Eymard, B., Sharshar, T., Le Panse, R., Berrih-Aknin, S. :
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review Clin Rev Allergy Immunol, 2017 ; 52 (1) : 108-124
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review Clin Rev Allergy Immunol, 2017 ; 52 (1) : 108-124
Attia, M., Maurer, M., Robinet, M., Le Grand, F., Fadel, E., Le Panse, R., Butler-Browne, G., Berrih-Aknin, S. :
Muscle satellite cells are functionally impaired in myasthenia gravis: consequences on muscle regeneration Acta Neuropathol, 2017 ; (SP) :
Muscle satellite cells are functionally impaired in myasthenia gravis: consequences on muscle regeneration Acta Neuropathol, 2017 ; (SP) :
Querin, G., Corcia, P., Lenglet, T., Stojkovic, T., Leguern, E., Cazeneuve, C., Pradat, P. F. :
Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant Rev Neurol (Paris), 2017 ; (SP) :
Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant Rev Neurol (Paris), 2017 ; (SP) :
Batonnet-Pichon, S., Behin, A., Cabet, E., Delort, F., Vicart, P., Lilienbaum, A. :
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches J Neuromuscul Dis, 2017 ; 4 (1) : 1-15
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches J Neuromuscul Dis, 2017 ; 4 (1) : 1-15
Vasli, N., Harris, E., Karamchandani, J., Bareke, E., Majewski, J., Romero, N. B., Stojkovic, T., Barresi, R., Tasfaout, H., Charlton, R., Malfatti, E., Bohm, J., Marini-Bettolo, C., Choquet, K., Dicaire, M. J., Shao, Y. H., Topf, A., O'Ferrall, E., Eymard, B., Straub, V., Blanco, G., Lochmuller, H., Brais, B., Laporte, J., Tetreault, M. :
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion Brain, 2017 ; 140 (Pt 1) : 37-48
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion Brain, 2017 ; 140 (Pt 1) : 37-48
